A team of researchers led by Matthew Farrer, Canada Excellence Research Chair in Neurogenetics and Translational Neuroscience at The University of British Columbia (UBC), has identified a genetic mutation that causes late-onset Parkinson’s disease. The discovery paves the way for potential treatments that may halt or cure the debilitating neurodegenerative disease.
The mutation, located on a gene called Vps35, was identified using a novel technology called exome sequencing.
“We applied this technology to DNA samples from two cousins diagnosed with Parkinson’s disease,” says lead author Carles Vilariño-Güell, a postdoctoral research associate in Farrer’s team at UBC’s Department of Medical Genetics and a member of the Centre for Molecular Medicine and Therapeutics. “They are part of a Swiss family where eleven people have developed the disease.”
“We found one previously unidentified mutation was present in all the individuals in this family who had developed Parkinson’s disease, but we did not see this mutation in any of the more than 3,000 healthy individuals whose DNA samples we studied,” says Vilariño-Güell.
He and senior author Matthew Farrer subsequently found the Vps35 mutation in eight more patients with Parkinson’s disease from three other families, and one patient with no family history of disease. The families originated in countries as geographically disparate as Tunisia and the United States. “This conclusively proves that this mutation is the cause of disease in these patients,” says Vilariño-Güell.
Details of the study are published in The American Journal of Human Genetics.